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Survey of Ophthalmology Training Experiences Among Young Ophthalmologists in the Asia-Pacific

Tsai ASH, Yeo BSY, Anaya Alaminos R, Wong CW, Tham CC, Fang SK, et al.

Asia Pac J Ophthalmol (Phila), 2022 09 14;11(5):434-440.
PMID: 37494222 DOI: 10.1097/APO.0000000000000556

PURPOSE: To describe ophthalmology training experiences across the Asia-Pacific (APAC).
DESIGN: Survey study.
METHODS: We utilized an anonymous online survey, which was previously validated and conducted in Europe, through Young Ophthalmologist leaders from the national member societies of the Asia-Pacific Academy of Ophthalmology (APAO) from September 2019 to July 2021. Responses were based on a 5-point Likert scale (where applicable) and data were analyzed using Microsoft Excel. Our main outcome measures were differences between regions, that is, Southeast Asia (SEA) and Western Pacific (WP); and seniority, that is, trainees/junior ophthalmologists and senior ophthalmologists.
RESULTS: We collated 130 responses representing 20 regions in the APAC region. The year of completion of ophthalmic training ranged from 1999 to 2024. The mean duration of training was 3.7±1.0 years. Most (98/130, 75%) indicated an interest for a common training standard across the APAC. Comparing SEA and WP trainees, both regions had similar working environments, but those in SEA reported significantly lower remuneration than their counterparts in WP ($600 vs $3000, P <0.05). WP trainees performed more phacoemulsification surgeries (76 WP vs 19 SEA), while SEA trainees conducted more manual small incision cataract surgeries (157 WP vs 1.5 SEA per duration of training). Senior ophthalmologists performed more cataract surgeries (210.9 senior ophthalmologists vs 40.1 junior ophthalmologists). Trainees had less confidence in medical competency areas such as interpreting an electroretinogram/visual evoked potential/electrooculogram (SEA=1.8, WP=2.1) and conducting an angiography (SEA=2.8, WP=3.4).
CONCLUSIONS: Our study highlighted heterogeneity among ophthalmology training experiences in the APAC region, with the majority indicating an interest in a common training standard.
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk

Chew EG, Liu Z, Li Z, Chung SJ, Lian MM, Tandiono M, et al.

Nat Aging, 2024 Nov 21.
PMID: 39572736 DOI: 10.1038/s43587-024-00760-7

Parkinson's disease (PD) is an incurable, progressive and common movement disorder that is increasing in incidence globally because of population aging. We hypothesized that the landscape of rare, protein-altering variants could provide further insights into disease pathogenesis. Here we performed whole-exome sequencing followed by gene-based tests on 4,298 PD cases and 5,512 controls of Asian ancestry. We showed that GBA1 and SMPD1 were significantly associated with PD risk, with replication in a further 5,585 PD cases and 5,642 controls. We further refined variant classification using in vitro assays and showed that SMPD1 variants with reduced enzymatic activity display the strongest association (<44% activity, odds ratio (OR) = 2.24, P = 1.25 × 10-15) with PD risk. Moreover, 80.5% of SMPD1 carriers harbored the Asian-specific p.Pro332Arg variant (OR = 2.16; P = 4.47 × 10-8). Our findings highlight the utility of performing exome sequencing in diverse ancestry groups to identify rare protein-altering variants in genes previously unassociated with disease.
Fulltext ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma

Nongpiur ME, Khor CC, Jia H, Cornes BK, Chen LJ, Qiao C, et al.

PLoS Genet, 2014 Mar;10(3):e1004089.
PMID: 24603532 DOI: 10.1371/journal.pgen.1004089

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, et al.

Nat Genet, 2016 May;48(5):556-62.
PMID: 27064256 DOI: 10.1038/ng.3540

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.